Phenotype #0000078997

Individual ID 00100780
Associated disease ?
Diagnosis/Initial microcephalic primordial dwarfism
Diagnosis/Definite -
Phenotype details microcephalic primordial dwarfism; birth 37w, weight 3210g (-1.1), length 48cm (-2.0), OFC 27.5cm (-4.2); 5y1m weight 18.4kg (0.0), length 101.5cm (-1.7), OFC 43.5 cm (-6.9), mild to moderate developmental delay (HP:0001263), ADHD (HP:0007018)
Inheritance Familial, autosomal recessive
Age/Examination 05y01m (5 years, 1 month)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Lynn Boekhoudt
Database submission license No license selected
Created by Lynn Boekhoudt
Date created 2017-03-09 16:24:30 +01:00 (CET)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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